Annotation Detail
Information
- Associated Genes
- EGFR
- Associated Variants
-
EGFR p.Gly719Ala (p.G719A)
(
ENST00000275493.7,
ENST00000450046.2,
ENST00000455089.5 )
EGFR p.Gly719Ala (p.G719A) ( ENST00000275493.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- glioblastoma
- Source Database
- ClinVar
- Description
- NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala) AND Glioblastoma
- ClinVar Allele ID
- 54392
- ClinVar RefSeq Alternation Syntax
- NM_001346900.2:c.1997G>C
- ClinVar RefSeq Alternation Syntax
- NM_001346897.2:c.2021G>C
- ClinVar RefSeq Alternation Syntax
- NM_001346941.2:c.1355G>C
- ClinVar RefSeq Alternation Syntax
- NM_001346898.2:c.2156G>C
- ClinVar RefSeq Alternation Syntax
- NM_001346899.2:c.2021G>C
- ClinVar RefSeq Alternation Syntax
- NM_005228.5:c.2156G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000426037
- ClinVar Disease
- Glioblastoma
- Observed Origin Sample
- somatic
Drugs